Cardiomyopathies in children. Clinical, epidemiological and prognostic evaluation.

Bilgiç, Arman; Özbarlas, Nazan; Özkutlu, Süheyla; Özer, Sema; Özme, Şencan

doi:10.1536/ihj.31.789

Cited by 22 publications

(12 citation statements)

References 8 publications

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“…All of them were at ages of 10 -12 mo. Hepatomegaly has been clinically reported in human patients suffering from RCM (4,5). Our data suggest that cTnI mutation-caused diastolic dysfunction could result in right-sided heart failure in aged TG mice.…”

Section: Discussionsupporting

confidence: 55%

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI

Du¹,

Liu²,

Feng³

et al. 2008

American Journal of Physiology-Heart and Circulatory Physiology

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Transgenic mice were generated to express a restrictive cardiomyopathy (RCM) human cardiac troponin I (cTnI) R192H mutation in the heart (cTnI(193His) mice). The objective of this study was to assess cardiac function during the development of diastolic dysfunction and to gain insight into the pathophysiological impact of the RCM cTnI mutation. Cardiac function and pathophysiological changes were monitored in cTnI193His mice and wild-type littermates for a period of 12 mo. It progressed gradually from abnormal relaxation to diastolic dysfunction characterized with high-resolution echocardiography by a reversed E-to-A ratio, increased deceleration time, and prolonged isovolumetric relaxation time. At the age of 12 mo, cardiac output in cTnI(193His) mice was significantly declined, and some transgenic mice showed congestive heart failure. The negative impact of cTnI193His on ventricular contraction and relaxation was further demonstrated in isolated mouse working heart preparations. The main morphological change in cTnI193His myocytes was shortened cell length. Dobutamine stimulation increased heart rate in cTnI193His mice but did not improve CO. The cTnI193His mice had a phenotype similar to that in human RCM patients carrying the cTnI mutation characterized morphologically by enlarged atria and restricted ventricles and functionally by diastolic dysfunction and diastolic heart failure. The results demonstrate a critical role of the COOH-terminal domain of cTnI in the diastolic function of cardiac muscle.

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Section: Discussionsupporting

confidence: 55%

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI

Du¹,

Liu²,

Feng³

et al. 2008

American Journal of Physiology-Heart and Circulatory Physiology

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“…from death or transplant) at 1-year survival to be70%, 72%, and 69% and 5-year survival to be 58%, 63%, 54%. [14][15][16] Of the 32 articles, 4 reported no associations between baseline factors and mortality: 1 was mainly descriptive with no modeling 17 ; another emphasized baseline dysrhythmias and did not analyze other factors, 18 and the last two detected no significant univariate associations. 19,20 One study found no "good" predictors but identified two factors that were either "insensitive" or of "limited clinical value" in predicting survival (the presence of severe mitral regurgitation in only three subjects who ultimately died; and pre-diagnosis viral symptoms had 78% sensitivity and 60% specificity).…”

Section: Resultsmentioning

confidence: 99%

Outcome predictors for pediatric dilated cardiomyopathy: A systematic review

Alvarez

Wilkinson

Lipshultz

2007

Progress in Pediatric Cardiology

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Dilated cardiomyopathy comprises the largest group of pediatric cardiomyopathy functional types and is the most common indication for heart transplant in children over 5 years old. Prognostic factors for this condition have long been sought by many researchers. In a systematic review of these factors, we found 32 relevant articles published since 1976. Four studies report finding no predictive factors. In the remaining 28 studies, several factors indicating better prognosis stand out across multiple articles: younger age at diagnosis, higher left-ventricular fractional shortening and ejection fraction, and the presence of myocarditis. Results for other factors conflict across studies: severe mitral regurgitation, arrhythmias, and a family history of cardiomyopathy. Elevated left-ventricular end diastolic pressure was statistically significant in two studies, but it may be of limited utility as a result of its invasiveness. Although most children have congestive heart failure at presentation, only two studies found it to be a significant predictor of mortality. The largest study of this factor qualified the increased risk to 1 year after presentation. Other significant predictors that have not been analyzed or reported by more than one study group, are right ventricular failure and impaired cardiac adrenergic innervation, as detected by radiolabeled meta-iodobenzylguanidine imaging. Although 1-and 5-year survival rates have steadily improved, as more children with DCM receive cardiac transplants, eventfree survival rates (the absence of "heart death" resulting in death or transplant) are similar to those from decades ago. A unified risk algorithm may assist in clinical decision-making but requires more studies. Other studies are needed to assess the post-transplant survival experience.

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“…Primary CMP is rare2-4). In Asia, reports on the incidence of primary CMP in pediatric age groups are extremely rare; hence, further research is needed in this area.…”

Section: Introductionmentioning

confidence: 99%

Cardiomyopathies in children

Hong

2013

Korean J Pediatr

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Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

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Cardiomyopathies in children. Clinical, epidemiological and prognostic evaluation.

Cited by 22 publications

References 8 publications

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI

Outcome predictors for pediatric dilated cardiomyopathy: A systematic review

Cardiomyopathies in children

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